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Holoprosencephaly 4
rareA rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.
- Identifiers
- MONDO:0007734 OMIM:142946
- Causal genes
- TGIF1
- Part of
- Holoprosencephaly
- Also known as
- holoprosencephaly caused by mutation in TGIF1 · holoprosencephaly type 4 · HPE4 · TGIF1 holoprosencephaly
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